Canonical Allele Identifier: CA403620188
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686270C>A , CM000681.2:g.6686270C>A GRCh38
NC_000019.9:g.6686281C>A , CM000681.1:g.6686281C>A GRCh37
NC_000019.8:g.6637281C>A NCBI36
NG_009557.1:g.39382G>T , LRG_27:g.39382G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2012G>T
ENST00000695652.1:c.3541G>T ENSP00000512083.1:p.Asp1181Tyr
ENST00000695653.1:c.1573G>T ENSP00000512084.1:p.Asp525Tyr
ENST00000695654.1:c.2689G>T ENSP00000512085.1:p.Asp897Tyr
ENST00000695655.1:c.2605G>T ENSP00000512086.1:n.2605G>T
ENST00000695692.1:n.3028G>T
ENST00000245907.11:c.3664G>T MANE Select ENSP00000245907.4:p.Asp1222Tyr
ENST00000245907.10:c.3664G>T ENSP00000245907.4:p.Asp1222Tyr
ENST00000596238.1:n.107G>T
ENST00000601008.1:c.241+476G>T ENSP00000471384.1:n.241+476G>T
NM_000064.3:c.3664G>T NP_000055.2:p.Asp1222Tyr
NM_000064.4:c.3664G>T MANE Select NP_000055.2:p.Asp1222Tyr